The report of our discovery of a new clinical presentation of hereditary demyelinating disorders that is associated with ovarian dysgenesis has recently been published in Annals of Neurology. We have continued our characterization of this neurogenetic disorder, and we anticipate that we shall eventually identify the gene that is mutated in patients with this condition. We have extended our studies on novel clinical markers of Fabry disease. Among these investigations are longitudinal MRI examinations of the brain with particular regard to the status of the cerebral blood vessels. We are also completing a study on small unmyelinated nerve fibers in the skin of patients with this disorder. These parameters, and other related clinical studies in patients with Fabry disease, will be of considerable importance in assessing responses to enzyme replacement and gene therapy in patients with this hereditary metabolic disorder.